| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8317931 | Clinical Biochemistry | 2012 | 4 Pages |
Abstract
⺠Spinal muscular atrophy (SMA) is caused mainly by absence of the SMN1 gene. ⺠In SMA, copy number of SMN2, a gene with reduced function, can influence severity. ⺠We describe a single-tube technique to estimate SMN1 and SMN2 copy number. ⺠In this, SMN1, SMN2 and a control gene, CFTR, are quantified by real-time PCR. ⺠In >1200 samples, the technique was accurate, fast, economical and reproducible.
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Authors
Bruno Maranda, Li Fan, Jean-François Soucy, Louise Simard, Grant A. Mitchell,